Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)

Cornelia de Lange Syndrome Clinical Trial

Official title:

Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS), a Pilot Study.

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT03113877
• Other study ID #: 15-003782
• Status: Terminated
• Start date: August 2016
• Est. completion date: September 1, 2017

Study information

• Verified date: December 2018
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic nervous system. This is a pilot study in which patients with CdLS will undergo the standard clinical testing for autonomic dysfunction with a autonomic reflex screen and thermoregulatory sweat test.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 1
• Est. completion date: September 1, 2017
• Est. primary completion date: September 1, 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 8 Years to 18 Years

Eligibility

Inclusion Criteria:

• Pediatric patients (aged 8-17 years of age) with Cornelia de Lange syndrome.

• Consent obtained from responsible guardian.

Exclusion Criteria:

• Patients less than age 8 or 18 and older

• Female patients known to be pregnant

• Individuals not thought to be able to tolerate the testing.

• Concomitant therapy with anticholinergic, alpha-adrenergic antagonists, beta-adrenergic antagonists or other medications which could interfere with autonomic testing. Patients may participate if the potentially interfering medication is held for five half-lives prior to the study

Related Conditions & MeSH terms

• Cornelia de Lange Syndrome
• Syndrome

Intervention

Other:
• Autonomic Dysfunction Testing
The participants with CdLS will complete the COMPASS-31 survey and will complete standard clinical testing for autonomic dysfunction including an autonomic reflex screen (tilt table and quantitative sudomotor axon reflex testing) and thermoregulatory sweat test (TST).

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of patients who tolerated 70 degree head up tilt table test	Patients tolerating at least 5 minutes of tilt table	1 year
Primary	Number of patients who show evidence of dysautonomia	Dysautonomia measured by excessive heart rate (>40 bpm) on a tilt table test or reduced sweating on a thermoregulatory sweat test.	1 year
Primary	Number of patients who tolerated thermoregulatory sweat test	Patients tolerating at least 15 minutes of thermoregulatory sweat test	1 year